ABSTRACT
We report a neonate with transaldolase deficiency caused by compound heterozygous variation of the TALDO1 gene. A pregnant woman, who had an adverse pregnancy history, was found with multiple fetal abnormalities on prenatal ultrasound and the following whole exon sequencing indicated a likely pathogenic heterozygous variation of c.462-2A>G and c.574C>T(p.R192C) in TALDO1 gene in the fetus. A body was born at 38 +1 weeks and presented dysmorphic features (cutis laxa/wrinkled skin and low-set ears, etc.), splenomegaly, anemia, abnormal liver function and coagulation. In combination with the prenatal testing results, transaldolase deficiency was diagnosed. The patients still had cutis laxa/wrinkled skin on the back of both hands and neck at one year and three months old. Therefore, for babies with hepatosplenomegaly, anemia, thrombocytopenia, coagulation dysfunction, at the same time with dysmorphic features such as cutis laxa, low-set ears, attention should be paid to the investigation of transaldolase deficiency.
ABSTRACT
Objective:To investigate the ability of predicting poor prognosis and the diagnosis efficacy of transcranial color Doppler ultrasound (TCCD) in acute ischemic stroke patients.Methods:A total of 264 AIS patients admitted to the Second Hospital of Dalian Medical University from January 2018 to March 2020 were selected and divided into early neurological deterioration (END) group (55 patients) and no END group (209 patients). The optic nerve sheath diameter (ONSD)/transverse eyeball diameter (ETD), middle cerebral artery pulsatility index (PI) and midline shift were detected by TCCD, and the results were analyzed.Results:The values of ONSD/ETD, PI and midline shift in the END group were higher than those in the no END group: 0.24 ± 0.02 vs. 0.22 ± 0.03, 1.26 ± 0.14 vs. 1.10 ± 0.12, (4.97 ± 1.13) mm vs. (3.41 ± 1.05) mm, and the differences were statistically significant ( P<0.05). The values of ONSD/ETD, PI, midline shift in the brain were positively correlated with the National Institutes of Health Stroke Scale (NIHSS) scores ( r1 = 0.531, r2 = 0.599, r3 = 0.566, all P<0.001). Multivariate analysis showed that NIHSS scores, blood glucose, ONSD/ETD, PI, brain midline shift values were related to END ( P<0.05). The prognostic area under the curve of the ONSD/ETD, PI, combined with brain midline shift values in assessing prognosis was 0.896, which was greater than any single index. The sensitivity was 84.62%, and the specificity was 89.08%. Conclusions:The detection of ONSD/ETD, PI and midline shift values by TCCD can provide important information for clinical assessment of the risk of END in AIS patients.
ABSTRACT
Objective To analyze the efficacy of high-frequency ultrasound in the clinical diagnosis of carpal tunnel syndrome (CTS),and to study the suitable diagnostic indicators and criteria of CTS for Chinese population.Methods High-frequency ultrasound was used to scan the median nerves of 67 CTS wrists and 67 normal wrists at the entrance,the middle and the outlet of carpal tunnels,and measured the cross-sectional area,diameter and flattening rate.Statistical analysis was used to evaluate the sensitivity,specificity,and AUC of ROC curve of the different parts of carpal tunnels.Results Compared with normal subjects,the CTS patients has larger cross-sectional area,diameter and flattening value of the median nerve in different parts of the carpal tunnel,and the differences are statistically significant (all P＞0.05).Among the measured indicators,the cross-sectional area of the median nerve at the entrance of the carpal tunnel has a better AUC value and good diagnostic sensitivity and specificity.Conclusion High-frequency ultrasonography has potential clinical significance for CTS diagnosis.The cross-sectional area of the median nerve at the entrance of the carpal tunnel can be used as a CTS diagnostic indicator for Chinese population,and it has good diagnostic sensitivity and specificity.
ABSTRACT
Bioactive glass (BG) has been widely used in bone tissue engineering due to its good osteogenic property and bioactivity, but it still has some deficiencies, such as poor cell adhesion and low osteogenic rate and so on. Mesoporous biological glass (MBG) is a kind of new material originated from BG and mesoporous silica (MS). Because of its large number of nano-channel, large specific surface area, easy degradation, good biocompatibility and biological activity, MBG has great application prospects in the field of bone tissue engineering. This review would present MBG preparation and experimental research in order to provide the theoretical basis and experimental reference for related researches.
ABSTRACT
Cerebral small vessel disease is the common clinical,imaging and pathological syndrome that contribute to the onset and progression of cognitive impairment,and it also plays a crucial role on stroke,dementia,brain aging,and neurodegenerative disease.Cerebral small vessel disease can be detected and diagnosed using structural brain magnetic resonance imaging (MRI).The main imaging features of various cerebral small vessel disease include small subcortical infarcts,lacunes of presumed vascular origin,white matter hyperintensities,enlarged perivascular spaces,cerebral microbleeds,and global and regional brain atrophy.Other emerging imaging features are detectable at very high field strength MRI include microinfarcts.Cerebral small vessel disease used to be considered clinically silent.However,in the past decades or so,numerous studies have investigated the association between various imaging markers of cerebral small vessel disease and cognitive dysfunction (e.g.vascular cognitive impairment and Alzheimer's disease).The results have shown that these neuroimaging markers are associated with cognitive dysfunction,and can be used to predict the risk of dementia and the progression of cognitive impairment.This review article seeks to summarize neuroimaging studies that examine the associations between various markers of cerebral small vessel disease and cognitive impairment.
ABSTRACT
Objective To compare the clinical effect of non-operative and operative treatment for flail chest.Methods A retrospective case control study was made on 60 cases of flail chest treated from March 2013 to April 2016.There were 42 males and 18 females,at the age range of 36-62 years [(49.8 ± 10.3)years].According to the treatment methods,the patients were divided into non-operation group (28 cases) and operation group (32 cases).Chest CT,pulmonary function and 36-item short-form health survey(SF-36) were measured in all patients 3 months and 6 months after injury.Differences in atelectasis,chest wall deformity,delayed fracture healing,pulmonary function and life quality were analyzed between the two groups.Results Compared to non-operative group at postoperative 3 months,rates of atelectasis,chest wall deformity and delayed fracture healing in operation group were obviously lower,while indices of pulmonary function pulmonary function including forced vital capacity (FVC),forced expiratory volume in one second(FEV1),one second rate (FEV1/FVC) and maximal voluntary ventilation measured value (MVV) in operation group wcre higher,and SF-36 parameters including physical functioning (PF),role-physical (RP),bodily pain (BP),general health (GH),vitality (VT),social functioning (SF) and mental health (MH) in operation group were better (all P ＜ 0.05).As to the data measured 6 months after injury,there were no significant differences between the two groups,except that the rate of chest wall deformity in non-operative group (6 cases,39％) was higher than that in operation group (11 cases,19％) (P ＜ 0.05).As to c hest CT,indices of pulmonary function and SF-36 parameters (P ＜ 0.05),there were no significant differences within operation group at postoperative 3 months and 6 months (P ＞ 0.05).Non-operation group showed better results in rate of atelectasis,rate of delayed fracture healing,indices of pulmonary function and SF-36 parameters measured 6 months after injury than the detections at postoperative 3 months (P ＜ 0.05),without difference in rate of chest wall deformity (P ＞ 0.05).Conclusions Surgical treatment of flail chest can accelerate fracture healing,reduce rate of chest wall deformity and improve life quality of patients early compared to non-operative treatment.Although there is no obvious difference in life quality of patients between operative and non-operative treatment 6 months after injury,but the chest wall deformity remains significantly different.
ABSTRACT
Objective To observe the effect of abdominal obesity on lung function in the perioperative period of complete video-assisted thoracoscopic lobectomy.Methods Collected 36 cases of peripheral lung cancer and could complete video-assisted thoracoscopic lobectomy by access conditions,18 cases in abdominal obesity group who had body mass index (BMI) ＞ 35 kg/m2 and the waist circumference ＞ 95 cm on men the waist circumference ＞ 90 cm on women,18 cases in normal weight group who had BMI ＜ 25 kg/m2 and the waist circumference ＜ 85 cm on men the waist circumference ＜ 80 cm on women.All cases had complete video-assisted thoracoscopic lobectomy and lymph node dissection with 4 holes,and recorded the operation time,before and after operation had blood gas analysis and lung function,at the same time recorded the cases of complication after operation,compared the parameters in two groups.Results The blood gas analysis had no difference before operation,but after 12 h of operation,the arterial blood oxygen partial pressure (PaO2) declined and alveolar-arterial blood oxygen partial pressure difference(PA-aO2) increased in abdominal obesity group,while the PaO2 declined and arterial blood CO2 partial pressure (PaCO2),PA-aO2 increased compared with normal weight group(P ＜ 0.05).The forced vital capacity (FVC),forced expiratory volume in 1 second(FEV1) had statistical significance in two groups before operation(P ＜ 0.05),on the third day after operation,the abdominal obesity group to himself the FVC,FEV1,maximal voluntary rentilation (MVV),functional residual capacity (FRC),carbon monoxide diffusion amount (DLCO) declined obviously except FEV1/FVC (P ＜ 0.05),compared with normal weight group,the FVC,FEV1,FRC,DLCO declined obviously (P ＜ 0.05).After operation,the lung function in abdominal obesity group,the FVC,FEV1,MVV,FRC,DLCO declined 25.8％,27.8％,20.4％,32.1％,39.1％,compared with normal weight group the FVC,FEV1,FRC,DLCO declined 31.8％,37.2％,30.2％,30.6％.The abdominal obesity group had more complication.Conclusion In the perioperative period of complete video-assisted thoracoscopic lobectomy,the abdominal obesity has more effect to lung function and must have more attentions on it,and effective weight control has important significance to operation patients.
ABSTRACT
Objective To study the pathological characteristic of VX2 hepatic tumor in rabbit and the value of ultrasound in detecting this tumor mode. Methods To establish a model of Rabbit Liver VX2 Tumor with ultrasound- guided implantation of constitution mass and ultrasounds scanning was performed at fourteen days and twentyone days after implantation. After that, all the rabbits were executed and pathological examination was performed. Results Twenty models of Rabbit Liver VX2 Tumor were successfully established. The fourteen days after implantation,18 rabbits were found tumor,tumor diameter 8. 6 ～ 11.8 mm, average diameter ( 10. 15 ± 0. 67) mm; The twenty one days after implantation,20 rabbits were found tumor, tumor diameter 13.2 ～ 18.3 mm, average diameter( 16. 13 ±1.98)mm. Ultrasound showed that the tumor in the rabbit liver was a single spherical or sphere-alike hypoechoic nudes,and there were higher blood flow signals around the nedus. In pathological examination,the tumors were exserted to the liver surface,the cross sections of the tumor were gray,the cells of the tumors were bigger than the normal liver cells,arranged into nests with fibrous tissue. Conclusion In pathological examination, the heteromorphism of VX2 tumor cell was conspicuous. The growth of VX2 hepatoma could be monitored by ultrasound effectively.
ABSTRACT
To study the chemical constituents of Saxifraga stolonifera (L.) Meeb., chromatographic techniques were applied to separate and purify the compounds, and their structures were confirmed on the basis of physicochemical properties and spectral data. Ten compounds were isolated and identified as 5-O-methylnorbergenin (1), 3, 4-dihydroxyallylbenzene-4-O-beta-D-glucopyranoside (2), (7R, 8S)-4, 9, 9'-trihydroxyl-3-methoxyl-7, 8-dihydrobenzofuran-1'-propylneolignan-3'-O-beta-D-glucopyranoside (3), quercetin-3-O-beta-D-xylopyranosyl-(1 --> 2)-beta-D-galactopyranoside (4), kaempferol-3-O-alpha-L-rhamnopyranoside (5), (3S, 5R, 6R, 7E, 9R)-3, 5, 6, 9-tetrahydroxy-7-megastigmane (6), benzyl-O-alpha-L-rhamnopyranosyl-(1 --> 6)-beta-D-glucopyranoside (7), p-hydroxyacetophenone (8), pyrogallic acid (9) and p-hydroxyphenol (10). Compound 1 is a new compound. Compounds 2-10 were isolated from this plant for the first time.
ABSTRACT
Objective To investigate effects of Naoxintong drip pill (NDP) in activating blood and removing blood-stasis and on myocardial and cerebral ischemia. Methods The in-vivo effect of NDP on thrombosis, aggregation of platelets, blood viscosity, microcirculation, acute myocardial and cerebral ischmia and the focal cerebral-infarction were observed for study the pharmacodyamic effect of NDP. Results NDP could significantly inhibit the formation of thrombosis and maximal aggregation rate of platelets, and decrease viscosity in whole blood and plasma in rats with blood stasis. It could also promote auricular microcirculation, prolong the survival time of mice with cerebral ischemia, improve the electrocardiogram of ischemic rats, reduce the focal cerebral-infarction area and improve behavior disorder. Conclusion NDP possesses actions of activating blood and removing blood-stasis and improving myocardial and cerebral ischemia and focal cerebral-infarction.